ClinVar Miner

Submissions for variant NM_025132.4(WDR19):c.2702A>G (p.Tyr901Cys)

gnomAD frequency: 0.00117  dbSNP: rs76326086
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000949194 SCV001095440 likely benign Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 2024-01-29 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002279655 SCV002567161 likely benign Connective tissue disorder 2021-06-21 criteria provided, single submitter clinical testing
GeneDx RCV003106084 SCV003761664 uncertain significance not provided 2022-07-27 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Revvity Omics, Revvity RCV003106084 SCV003823699 uncertain significance not provided 2022-06-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004543559 SCV004783991 likely benign WDR19-related disorder 2022-04-06 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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